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Syndromic Retinopathy v0.64 | TMEM107 | Bryony Thompson Marked gene: TMEM107 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Syndromic Retinopathy v0.64 | TMEM107 | Bryony Thompson Gene: tmem107 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Syndromic Retinopathy v0.64 | TMEM107 | Bryony Thompson Classified gene: TMEM107 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Syndromic Retinopathy v0.64 | TMEM107 | Bryony Thompson Gene: tmem107 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Syndromic Retinopathy v0.63 | TMEM107 |
Bryony Thompson gene: TMEM107 was added gene: TMEM107 was added to Syndromic Retinopathy. Sources: Expert list Mode of inheritance for gene: TMEM107 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM107 were set to 26595381 Phenotypes for gene: TMEM107 were set to Joubert syndrome 29 MIM#617562; Orofaciodigital syndrome XVI MIM#617563 Review for gene: TMEM107 was set to AMBER Added comment: A set of twins and an unrelated case reported with retinopathy as a feature of the condition. Sources: Expert list |